Gene: SLC26A4 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs145254330
rs145254330
SLC26A4
2 0.925 0.160 7 107672182 missense variant C/T snv 3.3E-04 1.7E-04 0.800 1.000 5 1997 2017
dbSNP: rs147952620
rs147952620
SLC26A4
3 0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05 0.700 1.000 5 2010 2014
dbSNP: rs1554360358
rs1554360358
SLC26A4
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 1.000 5 2010 2015
dbSNP: rs28939086
rs28939086
SLC26A4
2 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.810 1.000 5 1997 2013
dbSNP: rs747076316
rs747076316
SLC26A4
3 0.925 0.160 7 107694622 stop gained C/A;G;T snv 2.0E-05 2.1E-05 0.700 1.000 5 2005 2011
dbSNP: rs752807925
rs752807925
SLC26A4
3 0.925 0.160 7 107704382 stop gained C/T snv 1.3E-05 0.700 1.000 5 2011 2014
dbSNP: rs121908365
rs121908365
SLC26A4
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.800 1.000 4 1997 2016
dbSNP: rs146281367
rs146281367
SLC26A4
2 0.925 0.160 7 107683537 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2006 2014
dbSNP: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
2 0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05 0.710 1.000 4 2003 2010
dbSNP: rs397516411
rs397516411
SLC26A4 ; SLC26A4-AS1
2 0.925 0.160 7 107661637 splice acceptor variant A/G snv 1.2E-04 2.7E-04 0.700 1.000 4 2006 2015
dbSNP: rs727503430
rs727503430
SLC26A4
2 0.925 0.160 7 107704386 splice donor variant G/A snv 1.3E-05 2.8E-05 0.700 1.000 4 2004 2014
dbSNP: rs786204581
rs786204581
SLC26A4 ; SLC26A4-AS1
3 0.925 0.160 7 107663366 stop gained C/T snv 0.700 1.000 4 2009 2014
dbSNP: rs80338849
rs80338849
SLC26A4
2 0.925 0.160 7 107683538 splice donor variant G/A;T snv 2.0E-04; 1.6E-05 0.700 1.000 4 1998 2015
dbSNP: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 1.000 3 2012 2015
dbSNP: rs111033312
rs111033312
SLC26A4
4 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 1.000 3 2002 2008
dbSNP: rs1554359670
rs1554359670
SLC26A4
2 0.925 0.160 7 107694650 missense variant C/A snv 0.700 1.000 3 2003 2014
dbSNP: rs542620119
rs542620119
SLC26A4
1 0.925 0.160 7 107674302 missense variant G/C snv 9.1E-05 3.5E-05 0.700 1.000 3 2010 2013
dbSNP: rs786204601
rs786204601
SLC26A4
3 0.925 0.160 7 107696014 frameshift variant T/- delins 0.700 1.000 3 2011 2013
dbSNP: rs111033242
rs111033242
SLC26A4
2 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.700 1.000 2 2011 2015
dbSNP: rs1554354787
rs1554354787
SLC26A4
2 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 2 2006 2010
dbSNP: rs912147281
rs912147281
SLC26A4
3 0.925 0.160 7 107683356 splice donor variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 2 2013 2013
dbSNP: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs192366176
rs192366176
SLC26A4
4 0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1060499808
rs1060499808
SLC26A4
2 0.925 0.160 7 107704344 missense variant T/C snv 8.9E-06 0.700 0
dbSNP: rs1241745103
rs1241745103
SLC26A4
3 0.925 0.160 7 107701139 frameshift variant G/- del 7.0E-06 0.700 0